A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.

ABSTRACT: A homozygous missense mutation in the transferrin receptor 1 (TfR1), also known as CD71, leads to a rare inborn error of immunity (IEI) characterized by the impaired lymphocyte activation and proliferation due to defective iron uptake of cells. However, only one causative mutation (c.58T > C, p.Y20H) in the TFRC gene coding for TfR1 has been reported so far. We herein identified a new disease-causing homozygous germline mutation in the TFRC gene (c.64C > T, p.R22W) (referred to as TfR1^R22W from now on) in a Turkish patient with combined immunodeficiency (CID). TfR1^R22W results in impaired TfR1 internalization similar to previously defined TfR1^Y20H mutation. We found that TfR1^R22W is associated with severely restricted B and T lymphocyte clonal di

SUBMITTER: Aba U 

PROVIDER: S-EPMC10811203 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature